Variant Results

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Results for "AP5Z1"

Variant Events: 14

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

AP5Z1

7-0130-003

chr7:
4827430-4827430

G

A

intronic

De novo

-

-

Yuen2017 G

AP5Z1

AU4012302

chr7:
4825938-4825938

C

T

exonic

De novo

nonsynonymous SNV

NM_014855

c.C1190T

p.P397L

2.146

Yuen2017 G

AP5Z1

5-0128-003

chr7:
4818980-4818982

CAT

C

intronic

De novo

-

-

Yuen2017 G

AP5Z1

09C79974

chr7:
4829862-4829862

C

G

intronic

De novo

5.073

-

Fu2022 E
Satterstrom2020 E

AP5Z1

SP0089373

chr7:
4825315-4825315

G

T

exonic

De novo

nonsynonymous SNV

NM_014855

c.G1132T

p.G378W

13.71

-

Fu2022 E

AP5Z1

SP0009908

chr7:
4827757-4827757

G

T

intronic

De novo

-

-

Fu2022 E

AP5Z1

SP0100365

chr7:
4825365-4825365

A

T

intronic

De novo

-

-

Fu2022 E

AP5Z1

2-1526-003

chr7:
4820788-4820788

G

T

intronic

De novo

-

-

Yuen2017 G

AP5Z1

SP0028260

chr7:
4825249-4825249

C

T

exonic

De novo

nonsynonymous SNV

NM_014855

c.C1066T

p.R356W

14.53

Feliciano2019 E
Fu2022 E

AP5Z1

74-0081

chr7:
4830311-4830311

C

T

exonic

Inherited

nonsynonymous SNV

NM_014855

c.C1946T

p.A649V

13.29

-

Patowary2019 E

AP5Z1

DEASD_1057_001

chr7:
4830947-4830947

G

A

exonic

De novo

synonymous SNV

NM_014855

c.G2355A

p.T785T

-

Fu2022 E
Satterstrom2020 E

AP5Z1

iHART1798

chr7:
4829461-4829461

A

G

splicing

Paternal

splicing

12.62

-

Ruzzo2019 G

AP5Z1

iHART2324

chr7:
4824676-4824676

C

T

exonic

Maternal

stopgain

NM_014855

c.C928T

p.R310X

21.0

Ruzzo2019 G

AP5Z1

iHART1797

chr7:
4829461-4829461

A

G

splicing

Paternal

splicing

12.62

-

Ruzzo2019 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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